Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human
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Spermatogenesis defects concern millions of men worldwide, yet the vast majority remains undiagnosed. Here we report men with primary infertility due to multiple morphological abnormalities of the sperm flagella with severe disorganization of the sperm axoneme, a microtubule-based structure highly conserved throughout evolution. Whole-exome sequencing was performed on 78 patients allowing the identification of 22 men with bi-allelic mutations in DNAH1 ( n = 6), CFAP43 ( n = 10), and CFAP44 ( n = 6). CRISPR/Cas9 created homozygous CFAP43 / 44 male mice that were infertile and presented severe flagellar defects confirming the human genetic results. Immunoelectron and stimulated-emission-depletion microscopy performed on CFAP43 and CFAP44 orthologs in Trypanosoma brucei evidenced that both proteins are located between the doublet microtubules 5 and 6 and the paraflagellar rod. Overall, we demonstrate that CFAP43 and CFAP44 have a similar structure with a unique axonemal localization and are necessary to produce functional flagella in species ranging from Trypanosoma to human.
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Human orthologs of two semi-sterile hits have been found mutated in related familial conditions: CFAP43 (orthologous to CG17687) is mutated in patients with MMAF, and CFAP52 (orthologous to CG10064) is mutated in laterality disorder.
“CFAP43 (orthologous to CG17687) is mutated in patients with multiple morphological abnormalities of the sperm flagella (MMAF), and CFAP52 (orthologous to CG10064) is mutated in laterality disorder, a condition caused by defects in ciliary beating during development [45,46].”
From Functional unknomics: Systematic screening of conserved genes of unknown function (2023) · cites this paper as [45]
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- Authors
- Coutton, C., Vargas, A. S., Amiri-Yekta, A., Kherraf, Z.-E., Ben Mustapha, S. F., Le Tanno, P., Wambergue-Legrand, C., Karaouzène, T., Martinez, G., Crouzy, S., Daneshipour, A., Hosseini, S. H., Mitchell, V., Halouani, L., Marrakchi, O., Makni, M., Latrous, H., Kharouf, M., Deleuze, J.-F., Boland, A., Hennebicq, S., Satre, V., Jouk, P.-S., Thierry-Mieg, N., Conne, B., Dacheux, D., Landrein, N., Schmitt, A., Stouvenel, L., Lorès, P., El Khouri, E., Bottari, S. P., Fauré, J., Wolf, J.-P., Pernet-Gallay, K., Escoffier, J., Gourabi, H., Robinson, D. R., Nef, S., Dulioust, E., Zouari, R., Bonhivers, M., Touré, A., Arnoult, C., & Ray, P. F.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- Royan Institute (IR)
- Commissariat à l'Énergie Atomique et aux Énergies Alternatives (FR)
- Centre Hospitalier Universitaire de Grenoble (FR)
- Inserm (FR)
- Sorbonne Paris Cité (FR)
- University of Geneva (CH)
- Corresponding author
- Ray, Pierre F.
- ORCID
- Coutton, Charles
- Vargas, Alexandra S.
- Amiri-Yekta, Amir
- Kherraf, Zine-Eddine
- Martinez, Guillaume
- Crouzy, Serge
- Hosseini, Seyedeh Hanieh
- Deleuze, Jean-François
- Boland, Anne
- Hennebicq, Sylviane
- Satre, Véronique
- Jouk, Pierre-Simon
- Dacheux, Denis
- Landrein, Nicolas
- Schmitt, Alain
- Lorès, Patrick
- Bottari, Serge P.
- Fauré, Julien
- Wolf, Jean-Philippe
- Escoffier, Jessica
- Gourabi, Hamid
- Robinson, Derrick R.
- Nef, Serge
- Bonhivers, Mélanie
- Touré, Aminata
- Arnoult, Christophe
- Ray, Pierre F.
- Venue
- Nature Communications
- Published
- 2018-02-15
- Volume
- 9
- Issue
- 1
- Pages
- 686-686
- ISSN
- 2041-1723 (ISSN-L)
- PMC
- PMC5814398
- OpenAlex
- W2806261901
- Cited by
- 245
- References
- 63
- Citations by year
- 2026: 22 · 2025: 19 · 2024: 30 · 2023: 34 · 2022: 35 · 2021: 27 · 2020: 31 · 2019: 29 · 2018: 18
- FWCI
- 28.16
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Nature Communications (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Archive ouverte UNIGE (University of Geneva) (publishedVersion, other-oa)
- HAL (submittedVersion, cc-by)
- Oskar-Bordeaux (Universite de Bordeaux) (submittedVersion, cc-by)
- RePEc: Research Papers in Economics (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Archive ouverte UNIGE (University of Geneva) (submittedVersion, cc-by)
- Greater South Information System
- Funders
- Fondation Maladies Rares
- University of Oxford
- Agence Nationale de la Recherche (ANR-15-CE17-0008, 10-INBS-04, ANR‐10_INBS‐04, ANR-11-LABX-0024, ANR-10, ANR-10-INBS-0004, ANR-14-CE15-0002)
- Institut National de la Santé et de la Recherche Médicale (ANR-10-INBS-04)
- Centre National de la Recherche Scientifique (ANR-10-INBS-04)
- Université de Genève
- Direction Générale de l’offre de Soins (PRTS 2014)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Sperm and Testicular Function
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Cystic Fibrosis Research Advances
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Keywords
- DNAH1, male infertility, axoneme, paraflagellar rod, doublet microtubules, spermatogenesis, Trypanosoma brucei, axonemal proteins, CRISPR/Cas9 mouse model
- MeSH terms
- Exome Sequencing, Adult, Animals, Cytoskeletal Proteins, Fertility, Flagella, Homozygote, Humans, Infertility, Male, Male, Microtubule Proteins, Middle Aged, Mutation, Nuclear Proteins, Peptide Hydrolases, Sperm Motility, Spermatozoa, Trypanosoma, Cohort Studies, Microscopy, Immunoelectron, Mice, Knockout, Mice, Axoneme, Clustered Regularly Interspaced Short Palindromic Repeats
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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